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Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects
With exome sequencing becoming a tool for mutation detection in routine diagnostics there is an increasing need for platform-independent methods of quality control. We present a genotype-weighted metric that allows comparison of all the variant calls of an exome to a high-quality reference dataset o...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3978951/ https://ncbi.nlm.nih.gov/pubmed/23902830 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/gm473 |
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